Article
Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2001
Rosias P R, Sijstermans J M, Theunissen P M, Pulles-Heintzberger C F, De Die-Smulders C E, Engelen J J, Van Der Meer S B
Abstract excerpt
We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome. The clinical features in our patient show phenotypic overlap with the cat eye syndrome, as illustrated by the review of 105 reported cases. Cytogenetic analysis revealed a supernumerary marker chromosome, which was identified by...
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